Should genetic testing for SCAs be included in the diagnostic workup for MSA?

Neurology

Volumn 83, Issue 19, 2014, Pages 1733-1738

  Kim, Han Joon ^a   Jeon, Beom S ^a   Shin, Junghwan ^a   Lee, Woong Woo ^a   Park, Hyeyoung ^a   Jung, Yu Jin ^b   Ehm, Gwanhee ^c  

^a Seoul National University   (South Korea)

^b Kyung Hee University College of Medicine   (South Korea)

^c Seonam University of Medicine Myongji Hospital   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 1; ATAXIN 17; ATAXIN 2; ATAXIN 3; ATAXIN 6; ATAXIN 7; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BLOOD PRESSURE; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CLINICAL FEATURE; CONTROLLED STUDY; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DISEASE DURATION; DIZZINESS; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; ORTHOSTATIC HYPOTENSION; PARASOMNIA; PARKINSONISM; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SHY DRAGER SYNDROME; SPINOCEREBELLAR ATAXIA GENE; COMPLICATION; GENETICS; MULTIPLE SYSTEM ATROPHY; MUTATION; SPINOCEREBELLAR ATAXIAS;

AGE OF ONSET; AGED; FEMALE; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MULTIPLE SYSTEM ATROPHY; MUTATION; RETROSPECTIVE STUDIES; SPINOCEREBELLAR ATAXIAS;

EID: 84922237104     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000965     Document Type: Article

References (39)

1. Wenning GK, Colosimo C, Geser F, Poewe W. Multiple system atrophy. Lancet Neurol 2004;3:93-103.
2. Trojanowski J, Revesz T. Proposed neuropathological criteria for the post mortem diagnosis of multiple system atrophy. Neuropathol Appl Neurobiol 2007;33:615-620.
3. Gilman S, Wenning GK, Low PA, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology 2008;71:670-676.
4. Hughes AJ, Daniel SE, Ben-Shlomo Y, Lees AJ. The accuracy of diagnosis of parkinsonian syndromes in a specialist movement disorder service. Brain 2002;125:861-870.
5. Khan NL, Giunti P, Sweeney MG, et al. Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6). Mov Disord 2005;20:1115-1119.
6. Kim JM, Hong S, Kim GP, et al. Importance of low-range CAG expansion and CAA interruption in SCA2 parkin-sonism. Arch Neurol 2007;64:1510-1518.
7. Kim JY, Kim SY, Kim JM, et al. Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism. Neurology 2009;72:1385-1389.
8. Yun JY, Kim JM, Kim HJ, Kim YE, Jeon BS. SCA6 presenting with young-onset parkinsonism without ataxia. Mov Disord 2012;27:1067-1068.
9. Stemberger S, Scholz SW, Singleton AB, Wenning GK. Genetic players in multiple system atrophy: unfolding the nature of the beast. Neurobiol Aging 2011;32:1924.e5- 1924.e14.
10. Kim HJ, Jeon BS, Lee JY, Yun JY. Survival of Korean patients with multiple system atrophy. Mov Disord 2011;26:909-912.
11. Mahowald MW, Schenck CH. REM sleep behaviour disorder: a marker of synucleinopathy. Lancet Neurol 2013; 12:417-419.
12. Abele M, Minnerop M, Urbach H, Specht K, Klockgether T. Sporadic adult onset ataxia of unknown etiology. J Neurol 2007;254:1384-1389.
13. Pedroso JL, Braga-Neto P, Felício AC, et al. Sleep disorders in cerebellar ataxias. Arq Neuropsiquiatr 2011;69: 253-257.
14. Abele M, Bürk K, Schöls L, et al. The aetiology of sporadic adult-onset ataxia. Brain 2002;125:961-968.
15. Futamura N, Matsumura R, Fujimoto Y, Horikawa H, Suzumura A, Takayanagi T. CAG repeat expansions in patients with sporadic cerebellar ataxia. Acta Neurol Scand 1998;98:55-59.
16. Schöls L, Szymanski S, Peters S, et al. Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum Genet 2000;107:132-137.
17. Multiple System Atrophy Research Collaboration. Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med 2013;369:233-244.
18. Hara K, Momose Y, Tokiguchi S, et al. Multiplex families with multiple system atrophy. Arch Neurol 2007;64:545-551.
19. Wüllner U, Schmitt I, Kammal M, Kretzschmar HA, Neumann M. Definite multiple system atrophy in a German family. J Neurol Neurosurg Psychiatry 2009;80:449-450.
20. Gwinn-Hardy K, Singleton A, O'Suilleabhain P, et al. Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family. Arch Neurol 2001; 58:296-299.
21. Coyne KS, Wein A, Nicholson S, Kvasz M, Chen CI, Milsom I. Comorbidities and personal burden of urgency urinary incontinence: a systematic review. Int J Clin Pract 2013;67:1015-1033.
22. Koide R, Kobayashi S, Shimohata T, et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 1999;8:2047-2053.
23. Bauer P, Laccone F, Rolfs A, et al. Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J Med Genet 2004;41:230-232.
24. Lin I, Wu RM, Lee-Chen GJ, Shan DE, Gwinn-Hardy K. The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment. Parkinsonism Relat Disord 2007;13:246-249.
25. Wu YR, Lin HY, Chen CM, et al. Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleo-tide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. Clin Genet 2004;65:209-214.
26. Nolte D, Sobanski E, Wissen A, Regula JU, Lichy C, Müller U. Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene. J Neurol Neurosurg Psychiatry 2010;81: 1396-1399.
27. Alibardi A, Squitieri F, Fattapposta F, et al. Psychiatric onset and late chorea in a patient with 41 CAG repeats in the TATA-binding protein gene. Parkinsonism Relat Disord 2014;20:678-679. doi: 10.1016/j.parkreldis.2014.1003.1007.
28. Doherty KM, Warner TT, Lees AJ. Late onset ataxia: MSA-C or SCA 17? A gene penetrance dilemma. Mov Disord 2014;29:36-38.
29. Nanda A, Jackson SA, Schwankhaus JD, Metzer WS. Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. Mov Disord 2007;22:436.
30. Stamelou M, Quinn NP, Bhatia KP. "Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide. Mov Disord 2013;28:1184-1199.
31. Kamm C, Healy DG, Quinn NP, et al. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Brain 2005;128:1855-1860.
32. Fuchs J, Nilsson C, Kachergus J, et al. Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology 2007;68:916-922.
33. Gwinn-Hardy K, Mehta ND, Farrer M, et al. Distinctive neuropathology revealed by a-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p. Acta Neuropathol 2000;99:663-672.
34. Singleton AB, Farrer M, Johnson J, et al. a-Synuclein locus triplication causes Parkinson's disease. Science 2003;302:841.
35. Jeon BS, Farrer MJ, Bortnick SF. Mutant COQ2 in multiple-system atrophy. N Engl J Med 2014;371:80.
36. Schottlaender L, Houlden H. Mutant COQ2 in multiple-system atrophy. N Engl J Med 2014;371:81.
37. Sharma M, Wenning GK, Kruger R. Mutant COQ2 in multiple-system atrophy. N Engl J Med 2014;371: 80-81.
38. Factor SA, Qian J, Lava NS, Hubbard JD, Payami H. False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy. Ann Neurol 2005; 57:462-463.
39. Nirenberg MJ, Libien J, Vonsattel JP, Fahn S. Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation. Mov Disord 2007;22:251-253.